Canonical Allele Identifier: CA2760283920
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291471_6291476del , CM000666.2:g.6291471_6291476del GRCh38
NC_000004.11:g.6293198_6293203del , CM000666.1:g.6293198_6293203del GRCh37
NC_000004.10:g.6344099_6344104del NCBI36
NG_011700.1:g.26622_26627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+104_631+109del ENSP00000507852.1:n.631+104_631+109del
ENST00000683395.1:c.608+117_608+122del
ENST00000684087.1:c.631+104_631+109del ENSP00000506978.1:n.631+104_631+109del
ENST00000684700.1:c.*30_*35del ENSP00000507806.1:n.*30_*35del
ENST00000506362.2:c.382+104_382+109del ENSP00000424103.2:n.382+104_382+109del
ENST00000673642.1:c.430+104_430+109del ENSP00000501242.1:n.430+104_430+109del
ENST00000673991.1:c.631+104_631+109del ENSP00000501033.1:n.631+104_631+109del
ENST00000226760.5:c.631+104_631+109del MANE Select ENSP00000226760.1:n.631+104_631+109del
ENST00000503569.5:c.631+104_631+109del ENSP00000423337.1:n.631+104_631+109del
ENST00000506362.1:c.228+104_228+109del
ENST00000507765.1:n.816+104_816+109del
NM_001145853.1:c.631+104_631+109del NP_001139325.1:n.631+104_631+109del
NM_006005.3:c.631+104_631+109del MANE Select NP_005996.2:n.631+104_631+109del
XM_017008586.1:c.640+104_640+109del XP_016864075.1:n.640+104_640+109del